C57BL/6J-Fuz^b2b1273Clo/J

Stock number: 018195
Research areas: Cardiovascular Research, Developmental Biology Research, Internal/Organ Research

Description

This Fuz (fuzzy homolog (Drosophila)) mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease and other developmental defects.

The Jackson Laboratory cannot guarantee that cryorecovery of G1 sperm from the Bench to Bassinet (B2B) collection will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.

Detailed description

This Fuz (fuzzy homolog (Drosophila)) mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.

Homozygotes demonstrate cardiovascular defects that involve pulmonary atresia, atrio-ventricular septal defects (AVSD), right aortic arch (RAA), vascular sling, and major aortopulmonary collarteral arteries (MAPCA). Central polydactyly, hypoplastic lung, liver isomerism, diaphragmatic hernia, short gut, and tracheo-esophageal fistula (TEF) are also seen.

Development

This Fuz mutation, identified in an ENU screen for recessive cardiovascular development phenotypes, was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program.

Allele

Symbol: Fuz^b2b1273Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 1273 Cecilia Lo
MGI accession ID: MGI:5311392
Generation method: Chemically induced (ENU)
Marker symbol: Fuz
Marker name: fuzzy planar cell polarity protein
Chromosome: 7
Strain of origin: C57BL/6J
Molecular note: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at nucleotide +2 after coding nucleotide 387 (c.387+2T>A, NM_027376.3) in intron 4. This changes splice donor site G-GT to G-GA (which is assumed to be much less efficient).
General note: Summative Diagnosis:
Cardiovascular defects: Pulmonary atresia, atrio-ventricular septal defects (AVSD), right aortic arch (RAA), vascular sling, and major aortopulmonary collarteral arteries (MAPCA).
Non-cardiovascular defects: central polydactyly, hypoplastic lung, liver isomerism, diaphragmatic hernia, short gut, tracheo-esophageal fistula (TEF)

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID	Code Description
1000	Pulmonary atresia congenital
1100	Atrioventricular canal (endocardial cushion defect)
2720	Right aortic arch
2771	Multiple major aortopulmonary collateral arteries (mapcas)
3804	Congenital heart disease
4202	Tracheoesophageal fistula
4103	Polydactyly
4400	Gastrointestinal anomaly
4447	Hepatic malformation
4864	Anophthalmia